A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142823



Internal ID18924761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132239326..132239453hg38UCSC Ensembl
Outerchr12:132810177..132810304hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993654, nssv3988054
SamplesKWS1, KWS2
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142823
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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